Variant report

Variant	rs11959451
Chromosome Location	chr5:118665520-118665521
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:118665375-118666928	PBDE	blood:	n/a	n/a
2	MAZ	chr5:118665042-118666765	K562	blood:	n/a	n/a
3	GATA1	chr5:118664659-118667087	PBDE	blood:	n/a	chr5:118666137-118666154 chr5:118666483-118666492 chr5:118666485-118666492 chr5:118666097-118666109
4	BHLHE40	chr5:118665485-118666927	K562	blood:	n/a	n/a
5	POLR2A	chr5:118665328-118665638	Hela-S3	cervix:	n/a	n/a
6	UBTF	chr5:118665489-118665605	K562	blood:	n/a	n/a
7	MYC	chr5:118665447-118666894	K562	blood:	n/a	n/a
8	MYC	chr5:118665459-118667383	K562	blood:	n/a	n/a
9	MAX	chr5:118665355-118665908	K562	blood:	n/a	n/a
10	NR2F2	chr5:118665463-118667077	K562	blood:	n/a	n/a
11	POLR2A	chr5:118664701-118667427	K562	blood:	n/a	n/a
12	JUND	chr5:118665386-118666801	K562	blood:	n/a	chr5:118665888-118665897
13	TEAD4	chr5:118665402-118666930	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118643237..118645769-chr5:118664741..118667190,3	K562	blood:
2	chr5:118662612..118665528-chr5:118665801..118667898,2	MCF-7	breast:
3	chr5:118665150..118667137-chr5:118667473..118670063,2	K562	blood:
4	chr5:118405258..118407472-chr5:118664950..118669105,3	K562	blood:
5	chr5:118665304..118666908-chr5:118684151..118685664,2	K562	blood:
6	chr5:118602762..118604388-chr5:118664246..118665991,2	MCF-7	breast:
7	chr5:118405258..118407734-chr5:118663807..118667698,3	K562	blood:

Variant related genes	Relation type
TNFAIP8	TF binding region
ENSG00000172869	Chromatin interaction
ENSG00000145779	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11950366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951771	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954854	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955852	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11956285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958957	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959659	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11959964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960246	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960654	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145189	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145194	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145196	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145198	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164572	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813301	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813302	0.95[ASN][1000 genomes]
rs3813304	1.00[ASN][1000 genomes]
rs4392658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161062	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60507834	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60756572	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535134	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67154545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67311526	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67708265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6861849	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862299	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862320	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862517	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862831	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868688	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868702	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869017	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883394	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786136	0.88[EUR][1000 genomes]
rs72786141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786142	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786143	0.88[EUR][1000 genomes]
rs72786144	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786149	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786152	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786157	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786159	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786161	0.88[EUR][1000 genomes]
rs73235259	0.89[ASN][1000 genomes]
rs73235260	0.89[ASN][1000 genomes]
rs73790807	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703577	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704291	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704326	0.89[ASN][1000 genomes]
rs7704334	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704386	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704398	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704487	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707221	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707736	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711101	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7711312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712227	0.88[EUR][1000 genomes]
rs7721976	0.89[ASN][1000 genomes]
rs7722687	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722699	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723976	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724082	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724178	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724204	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725244	0.88[EUR][1000 genomes]
rs7725878	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118658200-118670400	Weak transcription	Lung	lung
2	chr5:118658800-118665600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:118660200-118666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118660200-118678600	Weak transcription	HepG2	liver
7	chr5:118660400-118666000	Enhancers	Adipose Nuclei	Adipose
8	chr5:118660400-118668600	Enhancers	Primary hematopoietic stem cells	blood
9	chr5:118660400-118670400	Weak transcription	Right Atrium	heart
10	chr5:118661000-118666200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:118661400-118665600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:118661400-118665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr5:118661800-118667000	Enhancers	Fetal Heart	heart
14	chr5:118662200-118666200	Weak transcription	Left Ventricle	heart
15	chr5:118662200-118667200	Weak transcription	HMEC	breast
16	chr5:118662600-118666600	Enhancers	Fetal Stomach	stomach
17	chr5:118662600-118667000	Genic enhancers	Fetal Thymus	thymus
18	chr5:118662600-118669000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:118662600-118670400	Weak transcription	Right Ventricle	heart
20	chr5:118662800-118665800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:118662800-118665800	Weak transcription	Gastric	stomach
22	chr5:118662800-118668800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:118663000-118665600	Weak transcription	Stomach Mucosa	stomach
24	chr5:118663000-118667200	Weak transcription	Spleen	Spleen
25	chr5:118663000-118669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:118663200-118666200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:118663200-118666400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:118663400-118665600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:118663400-118665800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:118663400-118665800	Enhancers	Fetal Intestine Small	intestine
31	chr5:118663400-118667600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:118663600-118665800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:118663600-118665800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:118663600-118666600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:118663600-118668600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:118663800-118665800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:118663800-118666000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:118663800-118666000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr5:118663800-118666400	Enhancers	Fetal Lung	lung
40	chr5:118663800-118666600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr5:118663800-118667200	Enhancers	Colon Smooth Muscle	Colon
42	chr5:118663800-118667600	Enhancers	Duodenum Mucosa	Duodenum
43	chr5:118663800-118669200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr5:118664000-118665600	Enhancers	NHEK	skin
45	chr5:118664000-118666200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:118664000-118666400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:118664000-118666600	Enhancers	Rectal Smooth Muscle	rectum
48	chr5:118664000-118667400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr5:118664000-118667600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr5:118664000-118668800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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